Henriette Poaty1,2, Fanny Pelluard3, Gwenaelle André3, Brigitte Maugey-Laulom4, Dominique Carles3

1. Histology-Embryology and Genetic Laboratory, Faculty of Health Sciences, BP 2672, Marien Ngouabi University, Brazzaville, Congo.
2. National Research Institute on Health Sciences, Brazzaville, Congo
3. Department of Fetopathology, CHU Pellegrin, place Amélie Raba, 33076 Bordeaux cedex France
4. Fetal Imaging Unit, Maternity, CHU Pellegrin, place Amélie Raba, 33076 Bordeaux, France

Emails:
Henriette Poaty- henriettepoaty@gmail.com
Fanny Pelluard – fanny.pelluard@chu-bordeaux.fr
Gwenaelle André- gwenaelle.andre@chu-bordeaux.fr
Brigitte Maugey-Laulom- brigitte.maugeylaulom@chu-bordeaux.fr
Dominique Carles- carlesd@laposte.net

Abstract
Background: Truncus arteriosus communis (TAC) is a congenital heart defect in which the physiologic arterial common trunk was
not divided into aorta and pulmonary artery trunk.
Objectives: In this paper, we report on three observed cases from which we looked for (in conjunction with literature review)
the different causes of TAC many of which have genetic origins.
Methods: We collected three clinical files of fetuses having a TAC. Two of them were examinated after a medical termination of pregnancy motivated by severe cardiopathy. The malformation had been diagnosed based on different techniques: echocardiography, skeletal radiography, arteriography, fetal autopsy, karyotype and fluorescence in situ hybridization (FISH).
Results: Imaging and fetopathological examination revealed the presence of TAC type 3 and 4 in the Van Praaghs classification.
FISH analysis showed a 22q11.2 deletion in one fetus in favour of Digeorge syndrome. The karyotype analysis performed in two cases was normal.
Conclusion: Truncus arteriosus is a rare pathology caused by numerous etiologies from which many of them have genetic origin. This malformation can be diagnosed early during prenatal period. Postmortem fetopathological examination allows a better diagnosis approach and eventually a genetic counseling in recurrent cases such as case of consanguinity.
Keywords: Truncus arteriosus, conotruncal heart malformation, congenital heart defect, genetic etiologies.

DOI: https://dx.doi.org/10.4314/ahs.v18i1.19

Cite as: Poaty H, Pelluard F, André G, Maugey-Laulom B, Carles D. Truncus arteriosus communis: report of three cases and review of literature. Afri Health Sci 2018;18(1): 147-156. https://dx.doi.org/10.4314/

 Truncus arteriosus communis report of three cases and review of literature.PDF